Abstract:Molecular mechanisms of kidney stone formation remain unknown in most patients. Previous studies showed a high heritability of nephrolithiasis, but data on prevalence and characteristics of monogenic disease in unselected adults with nephrolithiasis are lacking. We performed whole exome sequencing in 787 participants of the Bern Kidney Stone Registry, an unselected cohort of adults with ≥ 1 past kidney stone episode (KSF), and 114 non-stone-forming individuals (NKSF). A panel of 34 established nephrolithiasis … Show more
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